• Gene id: 2

Gene Summary

• Gene Symbol: A2M   Gene   UCSC   Ensembl
• Aliases: A2MD, CPAMD5, FWP007, S863-7
• Gene name: alpha-2-macroglobulin
• Alternate names: alpha-2-macroglobulin, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5, alpha-2-M,
• Gene location: 12p13.31 (9116228: 9067707)     Exons: 37     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it
• OMIM: 103950

SNPs

rs1131692266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104225491G>T
NC_000010.10   g.105985249G>T
NG_051581.1   g.11887C>A
NM_025145.6   c.386C>A
NM_025145.5   c.386C>A
XM_005270172.3   c.386C>A
XM_005270172.1   c.386C>A
XM_011540196.2   c.386C>A
XM_011540197.2   c.386C>A
XM_005270171.2   c.386C>A
XM_005270  

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs886041025

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs886039789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

rs886039769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500686G>A
NC_000009.11   g.127262965G>A
NG_008176.1   g.11735C>T
NM_004959.5   c.274C>T
NM_004959.4   c.274C>T
NP_004950.2   p.Arg92Trp|SEQ=[G/A]|GENE=NR5A1

rs879253743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs786204822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016546C>A
NC_000019.10   g.49016546C>G
NC_000019.9   g.49519803C>A
NC_000019.9   g.49519803C>G
NG_033041.1   g.27648C>A
NG_033041.1   g.27648C>G
NG_011464.1   g.5545G>T
NG_011464.1   g.5545G>C|SEQ=[C/A/G]|GENE=LHB

rs781693813

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

rs768831533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104143452G>A
NC_000010.11   g.104143452G>C
NC_000010.11   g.104143452G>T
NC_000010.10   g.105903210G>A
NC_000010.10   g.105903210G>C
NC_000010.10   g.105903210G>T
NG_051581.1   g.93926C>T
NG_051581.1   g.93926C>G
NG_051581.1   g.93926C>A
NM_025145.6   c

rs756459525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754130052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs606231461

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs587777432

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000017.11   g.4744210_4744213AACA[1]
NC_000017.10   g.4647505_4647508AACA[1]
NG_034160.1   g.9196_9199AACA[1]
NM_001136046.3   c.1516_1519AACA[1]
NM_001136046.2   c.1516_1519AACA[1]
NM_032265.2   c.1399_1402AACA[1]
NM_001267822.1   c.1516_1519AACA[1]
XM_0170252  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515461

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632831G>A
NC_000008.10   g.133645077G>A
NG_033068.1   g.47787C>T
NM_012472.5   c.562C>T
NM_012472.6   c.562C>T
NM_012472.4   c.562C>T
NR_073525.2   n.686C>T
NR_073525.1   n.686C>T
NM_001321965.1   c.202C>T
NM_001321965.2   c.202C>T
NM_001321964.1   c.2

rs397515425

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000008.11   g.132632818dup
NC_000008.10   g.133645064dup
NG_033068.1   g.47801dup
NM_012472.5   c.576dup
NM_012472.6   c.576dup
NM_012472.4   c.576dup
NR_073525.2   n.700dup
NR_073525.1   n.700dup
NM_001321965.1   c.216dup
NM_001321965.2   c.216dup
NM_001321964.1   c.2

rs397515424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000008.11   g.132632794_132632795del
NC_000008.10   g.133645040_133645041del
NG_033068.1   g.47823_47824del
NM_012472.5   c.598_599del
NM_012472.6   c.598_599del
NM_012472.4   c.598_599del
NR_073525.2   n.722_723del
NR_073525.1   n.722_723del
NM_001321965.1   c.238

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs397514596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132656866C>G
NC_000008.10   g.133669112C>G
NG_033068.1   g.23752G>C
NM_012472.5   c.220G>C
NM_012472.6   c.220G>C
NM_012472.4   c.220G>C
NR_073525.2   n.344G>C
NR_073525.1   n.344G>C
NM_001321965.1   c.-454G>C
NM_001321965.2   c.-454G>C
NR_135912.1   n.10

rs387907152

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs387906690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500568G>A
NC_000009.11   g.127262847G>A
NG_008176.1   g.11853C>T
NM_004959.5   c.392C>T
NM_004959.4   c.392C>T
NP_004950.2   p.Pro131Leu|SEQ=[G/A]|GENE=NR5A1

rs376788209

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104230656G>A
NC_000010.10   g.105990414G>A
NG_051581.1   g.6722C>T
NM_025145.6   c.253C>T
NM_025145.5   c.253C>T
XM_005270172.3   c.253C>T
XM_005270172.1   c.253C>T
XM_011540196.2   c.253C>T
XM_011540197.2   c.253C>T
XM_005270171.2   c.253C>T
XM_0052701  

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

rs373911488

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104167627A>G
NC_000010.11   g.104167627A>T
NC_000010.10   g.105927385A>G
NC_000010.10   g.105927385A>T
NG_051581.1   g.69751T>C
NG_051581.1   g.69751T>A
NM_025145.6   c.2802T>C
NM_025145.6   c.2802T>A
NM_025145.5   c.2802T>C
NM_025145.5   c.2802T>A
XM_0  

rs371195126

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs201095702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500326C>T
NC_000009.11   g.127262605C>T
NG_008176.1   g.12095G>A
NM_004959.5   c.634G>A
NM_004959.4   c.634G>A
NP_004950.2   p.Gly212Ser|SEQ=[C/T]|GENE=NR5A1

rs200321595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632957C>G
NC_000008.10   g.133645203C>G
NG_033068.1   g.47661G>C
NM_012472.5   c.436G>C
NM_012472.6   c.436G>C
NM_012472.4   c.436G>C
NR_073525.2   n.560G>C
NR_073525.1   n.560G>C
NM_001321965.1   c.76G>C
NM_001321965.2   c.76G>C
NM_001321964.1   c.76G

rs200163795

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500592C>G
NC_000009.12   g.124500592C>T
NC_000009.11   g.127262871C>G
NC_000009.11   g.127262871C>T
NG_008176.1   g.11829G>C
NG_008176.1   g.11829G>A
NM_004959.5   c.368G>C
NM_004959.5   c.368G>A
NM_004959.4   c.368G>C
NM_004959.4   c.368G>A
NP_00495  

rs199696526

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs141945265

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.132632819G>A
NC_000008.11   g.132632819G>C
NC_000008.10   g.133645065G>A
NC_000008.10   g.133645065G>C
NG_033068.1   g.47799C>T
NG_033068.1   g.47799C>G
NM_012472.5   c.574C>T
NM_012472.5   c.574C>G
NM_012472.6   c.574C>T
NM_012472.6   c.574C>G
NM_01247  

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs35576928

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281137C>A
NC_000016.10   g.11281137C>G
NC_000016.9   g.11374994C>A
NC_000016.9   g.11374994C>G
NM_002761.3   c.102G>T
NM_002761.3   c.102G>C
NM_002761.2   c.102G>T
NM_002761.2   c.102G>C
NP_002752.1   p.Arg34Ser
NP_002752.1   p.Arg34Ser|SEQ=[C/A/G]|GE

rs28606463

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213929934C>T
NC_000002.11   g.214794658C>T|SEQ=[C/T]|GENE=SPAG16

rs28368082

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs17855750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28503907A>C
NC_000016.10   g.28503907A>T
NC_000016.9   g.28515228A>C
NC_000016.9   g.28515228A>T
NM_145659.3   c.175T>G
NM_145659.3   c.175T>A
XM_011545780.2   c.181T>G
XM_011545780.2   c.181T>A
NP_663634.2   p.Ser59Ala
NP_663634.2   p.Ser59Thr
XP_01154  

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17005650

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

rs16895863

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42603608A>T
NC_000006.11   g.42571346A>T
XM_005248966.3   c.-1554A>T
XR_001743284.2   n.1051A>T
XM_011514438.2   c.633A>T
NM_015255.2   c.552A>T
XM_017010595.1   c.633A>T
XM_017010596.1   c.552A>T
NM_001363705.1   c.552A>T
XM_017010594.1   c.633A>T
XR_0  

rs16851495

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214108287G>A
NC_000002.11   g.214973011G>A|SEQ=[G/A]|GENE=SPAG16

rs12988374

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410278C>T
NC_000002.11   g.215275002C>T
NM_024532.5   c.1859C>T
NM_024532.4   c.1859C>T
XM_011511823.3   c.1550C>T
XM_011511821.2   c.1577C>T
XM_011511819.2   c.1697C>T
XM_011511820.2   c.1673C>T
XM_017004897.1   c.1502C>T
NR_047659.1   n.2139C>T
XM_  

rs12988372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.214410273C>A
NC_000002.12   g.214410273C>T
NC_000002.11   g.215274997C>A
NC_000002.11   g.215274997C>T
NM_024532.5   c.1854C>A
NM_024532.5   c.1854C>T
NM_024532.4   c.1854C>A
NM_024532.4   c.1854C>T
XM_011511823.3   c.1545C>A
XM_011511823.3   c.1545C>T
  

rs12870438

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

rs12623569

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213930019A>C
NC_000002.11   g.214794743A>C
NM_024532.5   c.1274A>C
NM_024532.4   c.1274A>C
XM_011511823.3   c.965A>C
XM_011511816.3   c.1274A>C
XM_011511821.2   c.992A>C
XM_011511819.2   c.1112A>C
XM_011511815.2   c.1274A>C
XM_011511817.2   c.1274A>C
XM  

rs12323635

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs11754464

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31755958C>T
NC_000006.11   g.31723735C>T
NG_011611.1   g.20962C>T
NT_113891.3   g.3233215C>T
NT_113891.2   g.3233321C>T
NT_167245.2   g.3003732C>T
NT_167245.1   g.3009317C>T
NT_167247.2   g.3097847C>T
NT_167247.1   g.3103432C>T
NT_167248.2   g.3011780C>

rs11703684

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.24748945C>G
NC_000022.11   g.24748945C>T
NC_000022.10   g.25144912C>G
NC_000022.10   g.25144912C>T
NM_001008496.3   c.1411G>C
NM_001008496.3   c.1411G>A
NR_045648.1   n.2042G>C
NR_045648.1   n.2042G>A
NR_045649.1   n.1915A>G
NR_045649.1   n.1915A>C
NM_0  

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs11467497

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs11144790

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.76197556G>A
NC_000009.11   g.78812472G>A
NG_029445.1   g.311913G>A|SEQ=[G/A]|GENE=PCSK5

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs10835638

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30230805G>A
NC_000011.10   g.30230805G>T
NC_000011.9   g.30252352G>A
NC_000011.9   g.30252352G>T
NG_008144.1   g.4790G>A
NG_008144.1   g.4790G>T|SEQ=[G/A/T]|GENE=FSHB
LOC105376607   105376607

rs10250822

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17293365C>A
NC_000007.14   g.17293365C>G
NC_000007.14   g.17293365C>T
NC_000007.13   g.17332989C>A
NC_000007.13   g.17332989C>G
NC_000007.13   g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609

rs10247158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17285544A>T
NC_000007.13   g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609

rs10244329

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.128248636A>T
NC_000007.13   g.127888689A>T
NG_007450.1   g.12359A>T|SEQ=[A/T]|GENE=LEP

rs10167688

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.213489990C>A
NC_000002.11   g.214354714C>A
NM_024532.5   c.970C>A
NM_024532.4   c.970C>A
XM_011511823.3   c.661C>A
XM_011511816.3   c.970C>A
XM_011511821.2   c.688C>A
XM_011511819.2   c.808C>A
XM_011511820.2   c.970C>A
XM_011511815.2   c.970C>A
XM_01151  

rs9852810

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37027478G>A
NC_000003.11   g.37068969G>A
NG_007109.2   g.39129G>A|SEQ=[G/A]|GENE=MLH1

rs9340978

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152012810G>A
NC_000006.11   g.152333945G>A
NG_008493.2   g.361120G>A|SEQ=[G/A]|GENE=ESR1

rs9340958

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152009538C>T
NC_000006.11   g.152330673C>T
NG_008493.2   g.357848C>T|SEQ=[C/T]|GENE=ESR1

rs7969759

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs7156586

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

rs4647269

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.37016100C>T
NC_000003.11   g.37057591C>T
NG_007109.2   g.27751C>T|SEQ=[C/T]|GENE=MLH1

rs4474514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88560182G>A
NC_000012.12   g.88560182G>C
NC_000012.12   g.88560182G>T
NC_000012.11   g.88953959G>A
NC_000012.11   g.88953959G>C
NC_000012.11   g.88953959G>T
NG_012098.2   g.25280C>T
NG_012098.2   g.25280C>G
NG_012098.2   g.25280C>A
NG_012098.1   g.25280

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3749897

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42564364C>G
NC_000006.12   g.42564364C>T
NC_000006.11   g.42532102C>G
NC_000006.11   g.42532102C>T
XR_001743284.2   n.410C>G
XR_001743284.2   n.410C>T
XM_011514438.2   c.-9C>G
XM_011514438.2   c.-9C>T
NM_015255.2   c.45C>G
NM_015255.2   c.45C>T
XM_01701  

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs3736832

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs3129878

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32440958A>C
NC_000006.11   g.32408735A>C
NT_113891.3   g.3879082C>A
NT_113891.2   g.3879188C>A
NG_002392.2   g.5293C>A
NT_167248.2   g.3664005A>C
NT_167248.1   g.3669601A>C
NT_167245.2   g.3681261A>C
NT_167245.1   g.3686846A>C
NT_167249.2   g.3756099A>C

rs2301365

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281429G>T
NC_000016.9   g.11375286G>T|SEQ=[G/T]|GENE=PRM1
LOC105371082   105371082

rs2284922

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37381257G>A
NC_000006.11   g.37349033G>A
NM_003958.4   c.1344G>A
NM_003958.3   c.1344G>A
XM_006715241.3   c.1254G>A
XR_001743734.2   n.1641G>A
XR_001743731.2   n.1558G>A
NR_046399.1   n.1643G>A
NR_046399.2   n.1632G>A
XM_017011462.1   c.1173G>A|SEQ=[G/A

rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

rs2231829

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45547937G>A
NC_000020.10   g.44176576G>A|SEQ=[G/A]|GENE=EPPIN
EPPIN-WFDC6   100526773

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs2126986

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.56317795A>G
NC_000016.9   g.56351707A>G
NG_042800.1   g.131457A>G|SEQ=[A/G]|GENE=GNAO1

rs2077647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151807942T>A
NC_000006.12   g.151807942T>C
NC_000006.11   g.152129077T>A
NC_000006.11   g.152129077T>C
NG_008493.2   g.156252T>A
NG_008493.2   g.156252T>C
NM_000125.4   c.30T>A
NM_000125.4   c.30T>C
NM_000125.3   c.30T>A
NM_000125.3   c.30T>C
NM_0011227  

rs2070923

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11275998G>C
NC_000016.10   g.11275998G>T
NC_000016.9   g.11369855G>C
NC_000016.9   g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2
LOC105371082   105371082

rs2057951

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

rs2020880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs1801131

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11794419T>G
NC_000001.10   g.11854476T>G
NG_013351.1   g.16685A>C
NM_005957.5   c.1286A>C
NM_005957.4   c.1286A>C
NM_001330358.1   c.1409A>C
XM_005263460.5   c.1286A>C
XM_005263460.1   c.1286A>C
XM_005263463.4   c.1040A>C
XM_005263463.1   c.1040A>C
XM_0  

rs1799941

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7630105G>A
NC_000017.10   g.7533423G>A
NG_011981.2   g.21042G>A
NM_001146281.2   c.-68G>A
NM_001146279.2   c.-68G>A
NM_001146280.2   c.-68G>A
NM_001289116.1   c.-324G>A|SEQ=[G/A]|GENE=SHBG

rs1646022

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11276073C>G
NC_000016.10   g.11276073C>T
NC_000016.9   g.11369930C>G
NC_000016.9   g.11369930C>T
NM_001286359.1   c.298G>C
NM_001286359.1   c.298G>A
NM_001286359.2   c.298G>C
NM_001286359.2   c.298G>A
NP_001273288.1   p.Ala100Pro
NP_001273288.1   p.Ala1

rs1508595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88592239G>A
NC_000012.12   g.88592239G>T
NC_000012.11   g.88986016G>A
NC_000012.11   g.88986016G>T|SEQ=[G/A/T]

rs1394205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs1352947

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88566950C>G
NC_000012.12   g.88566950C>T
NC_000012.11   g.88960727C>G
NC_000012.11   g.88960727C>T
NG_012098.2   g.18512G>C
NG_012098.2   g.18512G>A
NG_012098.1   g.18512G>C
NG_012098.1   g.18512G>A|SEQ=[C/G/T]|GENE=KITLG

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1256049

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001291712.2   c.984G>A
NM_001291712.1   c.984G>A
NM_001437.2   c.984G>A
NM_001291723.1   c.984G>A
NM_001040275.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NR_073497.  

rs1136410

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.226367601A>G
NC_000001.10   g.226555302A>G
NM_001618.4   c.2285T>C
NM_001618.3   c.2285T>C
NP_001609.2   p.Val762Ala|SEQ=[A/G]|GENE=PARP1

rs1129332

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2404771C>T
NC_000001.10   g.2336210C>T
NG_016128.1   g.17997C>T
NM_007033.5   c.*1647C>T
NM_007033.4   c.*1647C>T
NG_008342.1   g.12801G>A
NM_002617.4   c.*995G>A
NM_153818.2   c.*995G>A
NM_001374426.1   c.*995G>A
NM_001374427.1   c.*995G>A
NM_001374425  

rs1110061

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500523C>A
NC_000009.12   g.124500523C>G
NC_000009.11   g.127262802C>A
NC_000009.11   g.127262802C>G
NG_008176.1   g.11898G>T
NG_008176.1   g.11898G>C
NM_004959.5   c.437G>T
NM_004959.5   c.437G>C
NM_004959.4   c.437G>T
NM_004959.4   c.437G>C
NP_00495  

rs1048055

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1629416A>C
NC_000020.10   g.1610062A>C
NM_018556.4   c.*223T>G
NM_018556.3   c.*223T>G
XM_005260749.4   c.*223T>G
XM_005260749.1   c.*223T>G
XM_011529286.2   c.*223T>G
NM_080816.2   c.*223T>G
NM_080816.3   c.*223T>G
NM_001039508.1   c.*223T>G|SEQ=[A/C]|

rs1046512

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36990805A>C
NC_000003.11   g.37032296A>C
NG_007109.2   g.2456A>C
NG_008418.1   g.7500T>G
NM_014805.4   c.*449T>G
NM_014805.3   c.*449T>G|SEQ=[A/C]|GENE=EPM2AIP1

rs1045642

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.87509329A>G
NC_000007.14   g.87509329A>T
NC_000007.13   g.87138645A>G
NC_000007.13   g.87138645A>T
NG_011513.1   g.208920T>C
NG_011513.1   g.208920T>A
NM_000927.4   c.3435T>C
NM_000927.4   c.3435T>A
NM_001348945.1   c.3645T>C
NM_001348945.1   c.3645T>A
  

rs852977

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.143307929A>G
NC_000005.9   g.142687494A>G
NG_009062.1   g.132584T>C|SEQ=[A/G]|GENE=NR3C1

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs757230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102132A>G
NC_000019.9   g.1102131A>G
NG_050621.1   g.3207A>G|SEQ=[A/G]|GENE=GPX4

rs757229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102115G>A
NC_000019.10   g.1102115G>C
NC_000019.10   g.1102115G>T
NC_000019.9   g.1102114G>A
NC_000019.9   g.1102114G>C
NC_000019.9   g.1102114G>T
NG_050621.1   g.3190G>A
NG_050621.1   g.3190G>C
NG_050621.1   g.3190G>T|SEQ=[G/A/C/T]|GENE=GPX4

rs737008

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.11281009G>A
NC_000016.10   g.11281009G>T
NC_000016.9   g.11374866G>A
NC_000016.9   g.11374866G>T
NM_002761.3   c.139C>T
NM_002761.3   c.139C>A
NM_002761.2   c.139C>T
NM_002761.2   c.139C>A
NP_002752.1   p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1
LOC1053710  

rs718772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30108218A>C
NC_000022.11   g.30108218A>G
NC_000022.10   g.30504207A>C
NC_000022.10   g.30504207A>G|SEQ=[A/C/G]|GENE=HORMAD2

rs699664

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.85553413C>T
NC_000002.11   g.85780536C>T
NG_011811.2   g.13122G>A
NM_000821.7   c.974G>A
NM_000821.6   c.974G>A
NM_000821.5   c.974G>A
NM_001142269.4   c.803G>A
NM_001142269.3   c.803G>A
NM_001142269.2   c.803G>A
XM_005264259.5   c.974G>A
XM_005264259.1  

rs642321

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31400896T>A
NC_000005.10   g.31400896T>C
NC_000005.9   g.31401003T>A
NC_000005.9   g.31401003T>C
NG_051574.1   g.136280A>T
NG_051574.1   g.136280A>G
NM_013235.5   c.*536A>T
NM_013235.5   c.*536A>G
NM_013235.4   c.*536A>T
NM_013235.4   c.*536A>G
NM_00110  

rs373341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.42691014T>C
NC_000006.12   g.42691014T>G
NC_000006.11   g.42658752T>C
NC_000006.11   g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2

rs195434

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37392781T>C
NC_000006.11   g.37360557T>C
NM_003958.4   c.*2023T>C
NM_003958.3   c.*2023T>C
NM_183078.2   c.*1929T>C
NM_183078.3   c.*1929T>C
NR_046399.1   n.3780T>C
NR_046399.2   n.3769T>C|SEQ=[T/C]|GENE=RNF8

rs195432

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37390246A>C
NC_000006.12   g.37390246A>G
NC_000006.12   g.37390246A>T
NC_000006.11   g.37358022A>C
NC_000006.11   g.37358022A>G
NC_000006.11   g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8

rs175080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

rs173665

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

rs104669

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37386283A>T
NC_000006.11   g.37354059A>T|SEQ=[A/T]|GENE=RNF8

rs13078

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95090410A>C
NC_000014.9   g.95090410A>T
NC_000014.8   g.95556747A>C
NC_000014.8   g.95556747A>T
NG_016311.1   g.72013T>G
NG_016311.1   g.72013T>A
NM_030621.4   c.*88T>G
NM_030621.4   c.*88T>A
NM_030621.3   c.*88T>G
NM_030621.3   c.*88T>A
NM_177438.3   c.*8

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs11594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.45542073C>A
NC_000020.11   g.45542073C>G
NC_000020.11   g.45542073C>T
NC_000020.10   g.44170712C>A
NC_000020.10   g.44170712C>G
NC_000020.10   g.44170712C>T
NM_020398.3   c.*71G>T
NM_020398.3   c.*71G>C
NM_020398.3   c.*71G>A
NM_020398.4   c.*71G>T
NM_0  

rs10719

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31401340A>G
NC_000005.10   g.31401340A>T
NC_000005.9   g.31401447A>G
NC_000005.9   g.31401447A>T
NG_051574.1   g.135836T>C
NG_051574.1   g.135836T>A
NM_013235.5   c.*92T>C
NM_013235.5   c.*92T>A
NM_013235.4   c.*92T>C
NM_013235.4   c.*92T>A
NM_001100412  

rs6166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs153109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.28507775T>C
NC_000016.9   g.28519096T>C|SEQ=[T/C]|GENE=IL27

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs9397080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152059380C>T
NC_000006.11   g.152380515C>T
NG_008493.2   g.407690C>T|SEQ=[C/T]|GENE=ESR1

rs2987983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64296935A>G
NC_000014.8   g.64763653A>G
NG_011535.1   g.46616T>C|SEQ=[A/G]|GENE=ESR2

rs3798577

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152099995T>C
NC_000006.11   g.152421130T>C
NG_008493.2   g.448305T>C
NM_000125.4   c.*1029T>C
NM_000125.3   c.*1029T>C
NM_001122742.1   c.*1029T>C
NM_001122740.1   c.*1029T>C
NM_001291230.1   c.*1029T>C
NM_001122741.1   c.*1029T>C
NM_001291241.1   c.*10

rs1256030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64280452A>G
NC_000014.9   g.64280452A>T
NC_000014.8   g.64747170A>G
NC_000014.8   g.64747170A>T
NG_011535.1   g.63099T>C
NG_011535.1   g.63099T>A|SEQ=[A/G/T]|GENE=ESR2

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs25640

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119475838G>A
NC_000005.10   g.119475838G>C
NC_000005.9   g.118811533G>A
NC_000005.9   g.118811533G>C
NG_008182.1   g.28386G>A
NG_008182.1   g.28386G>C
NM_000414.4   c.317G>A
NM_000414.4   c.317G>C
NM_000414.3   c.317G>A
NM_000414.3   c.317G>C
NM_0011992  

rs11205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119526018A>G
NC_000005.9   g.118861713A>G
NG_008182.1   g.78566A>G
NM_000414.4   c.1675A>G
NM_000414.3   c.1675A>G
NM_001199291.3   c.1750A>G
NM_001199291.2   c.1750A>G
NM_001199291.1   c.1750A>G
NM_001292028.2   c.1255A>G
NM_001292028.1   c.1255A>G
NM_  

rs28943594

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.119541965A>G
NC_000005.9   g.118877660A>G
NG_008182.1   g.94513A>G
NM_000414.4   c.2182A>G
NM_000414.3   c.2182A>G
NM_001199291.3   c.2257A>G
NM_001199291.2   c.2257A>G
NM_001199291.1   c.2257A>G
NM_001292028.2   c.1762A>G
NM_001292028.1   c.1762A>G
NM_  

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

rs1643821

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151862416G>A
NC_000006.11   g.152183551G>A
NG_008493.2   g.210726G>A|SEQ=[G/A]|GENE=ESR1

rs11155819

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151878224T>C
NC_000006.11   g.152199359T>C
NG_008493.2   g.226534T>C|SEQ=[T/C]|GENE=ESR1

rs1884052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151970231G>C
NC_000006.12   g.151970231G>T
NC_000006.11   g.152291366G>C
NC_000006.11   g.152291366G>T
NG_008493.2   g.318541G>C
NG_008493.2   g.318541G>T|SEQ=[G/C/T]|GENE=ESR1

rs3020328

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151984370C>A
NC_000006.12   g.151984370C>T
NC_000006.11   g.152305505C>A
NC_000006.11   g.152305505C>T
NG_008493.2   g.332680C>A
NG_008493.2   g.332680C>T|SEQ=[C/A/T]|GENE=ESR1

rs6905370

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152005062G>A
NC_000006.11   g.152326197G>A
NG_008493.2   g.353372G>A|SEQ=[G/A]|GENE=ESR1

rs13203975

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152011969G>A
NC_000006.11   g.152333104G>A
NG_008493.2   g.360279G>A|SEQ=[G/A]|GENE=ESR1

rs926779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152034785G>A
NC_000006.11   g.152355920G>A
NG_008493.2   g.383095G>A|SEQ=[G/A]|GENE=ESR1

rs3020364

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152045983A>G
NC_000006.12   g.152045983A>T
NC_000006.11   g.152367118A>G
NC_000006.11   g.152367118A>T
NG_008493.2   g.394293A>G
NG_008493.2   g.394293A>T|SEQ=[A/G/T]|GENE=ESR1

rs3020371

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152062685C>A
NC_000006.12   g.152062685C>T
NC_000006.11   g.152383820C>A
NC_000006.11   g.152383820C>T
NG_008493.2   g.410995C>A
NG_008493.2   g.410995C>T|SEQ=[C/A/T]|GENE=ESR1

rs3020375

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152068833A>C
NC_000006.12   g.152068833A>T
NC_000006.11   g.152389968A>C
NC_000006.11   g.152389968A>T
NG_008493.2   g.417143A>C
NG_008493.2   g.417143A>T|SEQ=[A/C/T]|GENE=ESR1

rs2228480

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152098960G>A
NC_000006.11   g.152420095G>A
NG_008493.2   g.447270G>A
NM_000125.4   c.1782G>A
NM_000125.3   c.1782G>A
NM_001122742.1   c.1782G>A
NM_001122740.1   c.1782G>A
NM_001291230.1   c.1788G>A
NM_001122741.1   c.1782G>A
NM_001291241.1   c.1779G>A
X  

rs2070565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs7588620

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

rs1801085

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27128971A>G
NC_000007.13   g.27168590A>G
NM_002141.4   c.*254T>C
NM_002141.5   c.*254T>C|SEQ=[A/G]|GENE=HOXA3
HOXA4   3201
HOXA-AS2   285943

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs3743104

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.32731784A>C
NC_000015.10   g.32731784A>G
NC_000015.10   g.32731784A>T
NC_000015.9   g.33023985A>C
NC_000015.9   g.33023985A>G
NC_000015.9   g.33023985A>T
NG_033791.1   g.18781A>C
NG_033791.1   g.18781A>G
NG_033791.1   g.18781A>T
NG_033791.2   g.18781A>C

rs17747401

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.74640406C>T
NC_000010.10   g.76400164C>T
NG_030484.2   g.494222C>T
NG_030484.1   g.494222C>T|SEQ=[C/T]|GENE=ADK

rs143136847

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

rs148454792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30233737C>A
NC_000011.9   g.30255284C>A
NG_008144.1   g.7722C>A
NM_000510.3   c.327C>A
NM_000510.2   c.327C>A
NM_001018080.2   c.327C>A
NM_001018080.1   c.327C>A
NP_000501.1   p.Ser109Arg
NP_001018090.1   p.Ser109Arg|SEQ=[C/A]|GENE=FSHB
LOC105376  

rs6170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.30231961G>T
NC_000011.9   g.30253508G>T
NG_008144.1   g.5946G>T
NM_000510.3   c.59G>T
NM_000510.2   c.59G>T
NM_001018080.2   c.59G>T
NM_001018080.1   c.59G>T
NP_000501.1   p.Ser20Ile
NP_001018090.1   p.Ser20Ile|SEQ=[G/T]|GENE=FSHB
LOC105376607   10

rs369191560

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

rs750682280

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500658C>T
NC_000009.11   g.127262937C>T
NG_008176.1   g.11763G>A
NM_004959.5   c.302G>A
NM_004959.4   c.302G>A
NP_004950.2   p.Arg101Gln|SEQ=[C/T]|GENE=NR5A1

rs995030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88496894A>G
NC_000012.11   g.88890671A>G
NG_012098.2   g.88568T>C
NG_012098.1   g.88568T>C
NM_000899.5   c.*325T>C
NM_000899.4   c.*325T>C
NM_003994.5   c.*325T>C|SEQ=[A/G]|GENE=KITLG

rs2477686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2461209G>C
NC_000001.10   g.2392648G>C
NT_187515.1   g.12399G>C|SEQ=[G/C]|GENE=PLCH2

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

rs4758680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.122170805T>A
NC_000012.12   g.122170805T>G
NC_000012.11   g.122655352T>A
NC_000012.11   g.122655352T>G|SEQ=[T/A/G]|GENE=LRRC43

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs1057035

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95087805T>C
NC_000014.8   g.95554142T>C
NG_016311.1   g.74618A>G
NM_030621.4   c.*2693A>G
NM_030621.3   c.*2693A>G
NM_177438.3   c.*2693A>G
NM_177438.2   c.*2693A>G
NM_001271282.3   c.*2693A>G
NM_001271282.2   c.*2693A>G
NM_001291628.1   c.*2693A>G
NM_00  

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs79822589

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

rs759981524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs190628533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090  

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs10249788

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17298523C>G
NC_000007.14   g.17298523C>T
NC_000007.13   g.17338147C>G
NC_000007.13   g.17338147C>T
XR_927073.2   n.16G>C
XR_927073.2   n.16G>A|SEQ=[C/G/T]|GENE=AHR
LOC101927609   101927609

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs3757824

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.17296411T>C
NC_000007.14   g.17296411T>G
NC_000007.13   g.17336035T>C
NC_000007.13   g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609

rs6080550

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1778944C>G
NC_000020.11   g.1778944C>T
NC_000020.10   g.1759590C>G
NC_000020.10   g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs7194

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32444703G>A
NC_000006.12   g.32444703G>C
NC_000006.11   g.32412480G>A
NC_000006.11   g.32412480G>C
NT_113891.3   g.3882792G>A
NT_113891.3   g.3882792G>C
NT_113891.2   g.3882898G>A
NT_113891.2   g.3882898G>C
NG_002392.2   g.9003G>A
NG_002392.2   g.9003G>

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs370681

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.342461C>T
NC_000016.9   g.392461C>T
NG_012267.1   g.15004G>A|SEQ=[C/T]|GENE=AXIN1

rs1805105

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.346264A>G
NC_000016.9   g.396264A>G
NG_012267.1   g.11201T>C
NM_003502.4   c.762T>C
NM_003502.3   c.762T>C
NM_181050.3   c.762T>C
NM_181050.2   c.762T>C
NR_134879.2   n.1198T>C
NR_134879.1   n.1151T>C
XM_011522682.2   c.909T>C
XM_011522683.2   c.909T>C
XM  

rs696

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.35401887C>G
NC_000014.9   g.35401887C>T
NC_000014.8   g.35871093C>G
NC_000014.8   g.35871093C>T
NG_007571.1   g.7852G>C
NG_007571.1   g.7852G>A
NM_020529.3   c.*126G>C
NM_020529.3   c.*126G>A
NM_020529.2   c.*126G>C
NM_020529.2   c.*126G>A|SEQ=[C/G/T]|GE

rs2302075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.5753815C>A
NC_000004.12   g.5753815C>G
NC_000004.12   g.5753815C>T
NC_000004.11   g.5755542C>A
NC_000004.11   g.5755542C>G
NC_000004.11   g.5755542C>T
NG_008843.1   g.47619C>A
NG_008843.1   g.47619C>G
NG_008843.1   g.47619C>T
NM_153717.3   c.1346C>A
NM_  

rs1801394

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

rs17268974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7318929T>A
NC_000023.11   g.7318929T>C
NC_000023.11   g.7318929T>G
NC_000023.10   g.7236970T>A
NC_000023.10   g.7236970T>C
NC_000023.10   g.7236970T>G
NG_021472.2   g.176678T>A
NG_021472.2   g.176678T>C
NG_021472.2   g.176678T>G|SEQ=[T/A/C/G]|GENE=STS

rs5934740

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7239611G>A
NC_000023.11   g.7239611G>C
NC_000023.10   g.7157652G>A
NC_000023.10   g.7157652G>C
NG_021472.2   g.97360G>A
NG_021472.2   g.97360G>C|SEQ=[G/A/C]|GENE=STS

rs5934842

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7264242C>A
NC_000023.11   g.7264242C>G
NC_000023.10   g.7182283C>A
NC_000023.10   g.7182283C>G
NG_021472.2   g.121991C>A
NG_021472.2   g.121991C>G|SEQ=[C/A/G]|GENE=STS

rs5934913

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7294236G>A
NC_000023.10   g.7212277G>A
NG_021472.2   g.151985G>A|SEQ=[G/A]|GENE=STS

rs6639811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7297762A>G
NC_000023.10   g.7215803A>G
NG_021472.2   g.155511A>G|SEQ=[A/G]|GENE=STS

rs3923341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7300859C>T
NC_000023.10   g.7218900C>T
NG_021472.2   g.158608C>T|SEQ=[C/T]|GENE=STS

rs5934937

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.7323041C>A
NC_000023.11   g.7323041C>G
NC_000023.11   g.7323041C>T
NC_000023.10   g.7241082C>A
NC_000023.10   g.7241082C>G
NC_000023.10   g.7241082C>T
NG_021472.2   g.180790C>A
NG_021472.2   g.180790C>G
NG_021472.2   g.180790C>T|SEQ=[C/A/G/T]|GENE=STS

rs1800734

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs161870

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7878079T>C
NC_000005.10   g.7878079T>G
NC_000005.9   g.7878192T>C
NC_000005.9   g.7878192T>G
NG_008856.1   g.13976T>C
NG_008856.1   g.13976T>G
NM_024010.4   c.537T>C
NM_024010.4   c.537T>G
NM_024010.3   c.537T>C
NM_024010.3   c.537T>G
NM_024010.2   c.618T

rs162036

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7885846A>G
NC_000005.9   g.7885959A>G
NG_008856.1   g.21743A>G
NM_024010.4   c.1049A>G
NM_024010.3   c.1049A>G
NM_024010.2   c.1130A>G
NM_002454.3   c.1049A>G
NM_002454.2   c.1049A>G
NM_001364440.2   c.1049A>G
NM_001364440.1   c.1049A>G
NM_001364441.2   c

rs1106042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.130357093G>A
NC_000012.11   g.130841638G>A
NT_187589.1   g.34018G>A
NM_004764.4   c.1580G>A
NM_004764.5   c.1580G>A
XM_011539004.3   c.1580G>A
XM_011539002.3   c.1580G>A
XM_011539003.3   c.1580G>A
XM_011539006.3   c.440G>A
XM_011539005.1   c.1580G>A
XM_  

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs1555633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs6461992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27181212A>G
NC_000007.14   g.27181212A>T
NC_000007.13   g.27220831A>G
NC_000007.13   g.27220831A>T
NG_012079.1   g.9005T>C
NG_012079.1   g.9005T>A
NM_005523.6   c.*1584T>C
NM_005523.6   c.*1584T>A
NM_005523.5   c.*1584T>C
NM_005523.5   c.*1584T>A|SEQ=[A

rs6932902

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152055389G>A
NC_000006.11   g.152376524G>A
NG_008493.2   g.403699G>A|SEQ=[G/A]|GENE=ESR1

rs1801132

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151944387G>A
NC_000006.12   g.151944387G>C
NC_000006.12   g.151944387G>T
NC_000006.11   g.152265522G>A
NC_000006.11   g.152265522G>C
NC_000006.11   g.152265522G>T
NG_008493.2   g.292697C>G
NG_008493.2   g.292697C>A
NG_008493.2   g.292697C>T
NM_000125.  

rs4986938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NG_011535.1   g.110453G>A
NM_001437.2   c.*39G>A
NR_073497.1   n.1600G>A
NM_001271877.1   c.*39G>A
XM_017021080.1   c.*39G>A
XM_017021079.1   c.*39G>A
XM_017021081.1   c.*39G>A
XM_017021082.1   c.*39G>A
XM_01702108  

rs605059

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

rs6259

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7633209G>A
NC_000017.10   g.7536527G>A
NG_011981.2   g.24146G>A
NM_001040.5   c.1066G>A
NM_001040.4   c.1066G>A
NM_001040.3   c.1066G>A
NM_001146279.3   c.1012G>A
NM_001146279.2   c.1012G>A
NM_001146279.1   c.1012G>A
NM_001146280.3   c.858G>A
NM_0011462  

rs3814309

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.109734781T>C
NC_000001.10   g.110277403T>C
NM_000849.4   c.*2290A>G
NM_000849.5   c.*2290A>G
NR_024537.1   n.3202A>G|SEQ=[T/C]|GENE=GSTM3

rs1800566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.69711242G>A
NC_000016.9   g.69745145G>A
NG_011504.2   g.20389C>T
NG_011504.1   g.20389C>T
NM_000903.3   c.559C>T
NM_000903.2   c.559C>T
NM_001025433.2   c.457C>T
NM_001025433.1   c.457C>T
NM_001025434.2   c.445C>T
NM_001025434.1   c.445C>T
NM_001286137.  

rs1571858

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.109737292C>A
NC_000001.11   g.109737292C>G
NC_000001.11   g.109737292C>T
NC_000001.10   g.110279914C>A
NC_000001.10   g.110279914C>G
NC_000001.10   g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3

rs2207396

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.152061247G>A
NC_000006.11   g.152382382G>A
NG_008493.2   g.409557G>A|SEQ=[G/A]|GENE=ESR1

rs2234693

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151842200T>C
NC_000006.12   g.151842200T>G
NC_000006.11   g.152163335T>C
NC_000006.11   g.152163335T>G
NG_008493.2   g.190510T>C
NG_008493.2   g.190510T>G|SEQ=[T/C/G]|GENE=ESR1

rs9340799

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.151842246A>G
NC_000006.11   g.152163381A>G
NG_008493.2   g.190556A>G|SEQ=[A/G]|GENE=ESR1

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

rs1618536

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45368348T>A
NC_000019.10   g.45368348T>C
NC_000019.9   g.45871606T>A
NC_000019.9   g.45871606T>C
NG_007067.2   g.7240A>T
NG_007067.2   g.7240A>G|SEQ=[T/A/C]|GENE=ERCC2

rs1799793

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45364001C>A
NC_000019.10   g.45364001C>T
NC_000019.9   g.45867259C>A
NC_000019.9   g.45867259C>T
NG_007067.2   g.11587G>T
NG_007067.2   g.11587G>A
NM_000400.4   c.934G>T
NM_000400.4   c.934G>A
NM_000400.3   c.934G>T
NM_000400.3   c.934G>A
NM_001130867.1  

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

rs1800629

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575254G>A
NC_000006.11   g.31543031G>A
NG_007462.1   g.4682G>A
NG_012010.1   g.8156G>A
NT_113891.3   g.3052541A>G
NT_113891.2   g.3052647A>G
NT_167246.2   g.2880295G>A
NT_167246.1   g.2885915G>A
NT_167249.2   g.2874534G>A
NT_167249.1   g.2873832G>A
NT  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs1800750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575186G>A
NC_000006.11   g.31542963G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NT_113891.3   g.3052473G>A
NT_113891.2   g.3052579G>A
NT_167246.2   g.2880227G>A
NT_167246.1   g.2885847G>A
NT_167249.2   g.2874466G>A
NT_167249.1   g.2873764G>A
NT  

rs361525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575324G>A
NC_000006.11   g.31543101G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NT_113891.3   g.3052611G>A
NT_113891.2   g.3052717G>A
NT_167246.2   g.2880365G>A
NT_167246.1   g.2885985G>A
NT_167249.2   g.2874604G>A
NT_167249.1   g.2873902G>A
NT  

rs1256063

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64235499A>G
NC_000014.9   g.64235499A>T
NC_000014.8   g.64702217A>G
NC_000014.8   g.64702217A>T
NG_011535.1   g.108052T>C
NG_011535.1   g.108052T>A|SEQ=[A/G/T]|GENE=ESR2

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs3021522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs2682826

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.117215033G>A
NC_000012.11   g.117652838G>A
NG_011991.2   g.151745C>T
NM_000620.5   c.*276C>T
NM_000620.4   c.*276C>T
NM_001204218.1   c.*276C>T
NM_001204213.1   c.*276C>T
NM_001204214.1   c.*276C>T|SEQ=[G/A]|GENE=NOS1

rs1047735

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.117247465G>A
NC_000012.11   g.117685270G>A
NG_011991.2   g.119313C>T
NM_000620.5   c.2706C>T
NM_000620.4   c.2706C>T
NM_001204218.1   c.2808C>T
NM_001204213.1   c.1698C>T
NM_001204214.1   c.1698C>T|SEQ=[G/A]|GENE=NOS1

rs3747052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

rs10506957

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88573230C>A
NC_000012.12   g.88573230C>T
NC_000012.11   g.88967007C>A
NC_000012.11   g.88967007C>T
NG_012098.2   g.12232G>T
NG_012098.2   g.12232G>A
NG_012098.1   g.12232G>T
NG_012098.1   g.12232G>A|SEQ=[C/A/T]|GENE=KITLG

rs1805405

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.226392320G>A
NC_000001.11   g.226392320G>T
NC_000001.10   g.226580021G>A
NC_000001.10   g.226580021G>T|SEQ=[G/A/T]|GENE=PARP1

rs3740753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

rs1042838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

rs1042064

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.27544615T>C
NC_000008.10   g.27402132T>C
NG_012064.1   g.58488T>C
NM_001979.6   c.*93T>C
NM_001979.5   c.*93T>C
NM_001256484.2   c.*93T>C
NM_001256484.1   c.*93T>C
NM_001256482.2   c.*93T>C
NM_001256482.1   c.*93T>C
NM_001256483.2   c.*93T>C
NM_00125648  

rs3742330

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95087025A>G
NC_000014.8   g.95553362A>G
NG_016311.1   g.75398T>C
NM_030621.4   c.*3473T>C
NM_030621.3   c.*3473T>C
NM_177438.3   c.*3473T>C
NM_177438.2   c.*3473T>C
NM_001271282.3   c.*3473T>C
NM_001271282.2   c.*3473T>C
NM_001291628.1   c.*3473T>C
NM_00  

rs2291109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532322A>G
NC_000005.10   g.31532322A>T
NC_000005.9   g.31532429A>G
NC_000005.9   g.31532429A>T
NG_051574.1   g.4854T>C
NG_051574.1   g.4854T>A
NM_018356.3   c.-71A>G
NM_018356.3   c.-71A>T
NM_018356.2   c.-71A>G
NM_018356.2   c.-71A>T
XM_011514062.3   c

rs17409893

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532682A>G
NC_000005.9   g.31532789A>G
NG_051574.1   g.4494T>C|SEQ=[A/G]|GENE=DROSHA
C5orf22   55322

rs180113

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

rs2281807

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1629555C>T
NC_000020.10   g.1610201C>T
NM_018556.4   c.*84G>A
NM_018556.3   c.*84G>A
XM_005260749.4   c.*84G>A
XM_005260749.1   c.*84G>A
XM_011529286.2   c.*84G>A
NM_080816.2   c.*84G>A
NM_080816.3   c.*84G>A
NM_001039508.1   c.*84G>A|SEQ=[C/T]|GENE=SIR

rs10246939

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.141972804T>C
NC_000007.13   g.141672604T>C
NG_016141.1   g.5970A>G
NM_176817.5   c.886A>G
NM_176817.4   c.886A>G
NW_003571040.1   g.114755T>C
NP_789787.5   p.Ile296Val|SEQ=[T/C]|GENE=TAS2R38

rs140685149

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

rs8135823

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30126470T>G
NC_000022.10   g.30522459T>G|SEQ=[T/G]|GENE=HORMAD2

rs11090601

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30171741A>C
NC_000022.10   g.30567730A>C|SEQ=[A/C]|GENE=HORMAD2

rs4823073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30116269G>A
NC_000022.10   g.30512258G>A|SEQ=[G/A]|GENE=HORMAD2

rs9620953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30150256C>T
NC_000022.10   g.30546245C>T|SEQ=[C/T]|GENE=HORMAD2

rs9625930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30152633G>A
NC_000022.10   g.30548622G>A|SEQ=[G/A]|GENE=HORMAD2

rs975704

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30176747G>A
NC_000022.10   g.30572736G>A
NM_152510.3   c.*580G>A
NM_152510.4   c.*580G>A
NM_152510.2   c.*580G>A
XM_011529917.3   c.*580G>A
NM_001329457.1   c.*580G>A
NM_001329457.2   c.*580G>A
NM_001329458.1   c.*580G>A
NM_001329458.2   c.*580G>A|SEQ=[

rs17167484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134371303T>G
NC_000005.9   g.133706994T>G
NG_042179.2   g.4745A>C
NG_046936.1   g.5128T>G
NM_003337.3   c.-293T>G
XM_017009544.2   c.-937A>C
XM_017009545.2   c.-742A>C
XM_024446086.1   c.-327A>C
XM_024446097.1   c.-729A>C
XM_024446096.1   c.-708A>C
XM_0  

rs3777373

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.134391612A>G
NC_000005.9   g.133727303A>G
NG_046936.1   g.25437A>G
NM_003337.4   c.*1259A>G
NM_003337.3   c.*1259A>G
NM_003337.2   c.*1259A>G|SEQ=[A/G]|GENE=UBE2B

rs4588110

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102140A>C
NC_000019.10   g.1102140A>G
NC_000019.10   g.1102140A>T
NC_000019.9   g.1102139A>C
NC_000019.9   g.1102139A>G
NC_000019.9   g.1102139A>T
NG_050621.1   g.3215A>C
NG_050621.1   g.3215A>G
NG_050621.1   g.3215A>T|SEQ=[A/C/G/T]|GENE=GPX4

rs3746165

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102212A>G
NC_000019.10   g.1102212A>T
NC_000019.9   g.1102211A>G
NC_000019.9   g.1102211A>T
NG_050621.1   g.3287A>G
NG_050621.1   g.3287A>T|SEQ=[A/G/T]|GENE=GPX4

rs3746166

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.1102176C>T
NC_000019.9   g.1102175C>T
NG_050621.1   g.3251C>T|SEQ=[C/T]|GENE=GPX4

rs758130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89330566A>G
NC_000015.9   g.89873797A>G
NG_008218.2   g.9230T>C|SEQ=[A/G]|GENE=POLG

rs2238296

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.89332098A>G
NC_000015.9   g.89875329A>G
NG_008218.2   g.7698T>C|SEQ=[A/G]|GENE=POLG

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

rs34349826

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016626A>G
NC_000019.9   g.49519883A>G
NG_033041.1   g.27728A>G
NG_011464.1   g.5465T>C
NM_000894.3   c.104T>C
NM_000894.2   c.104T>C
NP_000885.1   p.Ile35Thr|SEQ=[A/G]|GENE=LHB

rs6521

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.49016616G>A
NC_000019.10   g.49016616G>C
NC_000019.10   g.49016616G>T
NC_000019.9   g.49519873G>A
NC_000019.9   g.49519873G>C
NC_000019.9   g.49519873G>T
NG_033041.1   g.27718G>A
NG_033041.1   g.27718G>C
NG_033041.1   g.27718G>T
NG_011464.1   g.5475C>T
  

rs3788862

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.43658116A>C
NC_000023.11   g.43658116A>G
NC_000023.10   g.43517364A>C
NC_000023.10   g.43517364A>G
NG_008957.2   g.6956A>C
NG_008957.2   g.6956A>G|SEQ=[A/C/G]|GENE=MAOA

rs140132974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

rs5764698

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

rs944050

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233327T>C
NC_000014.8   g.64700045T>C
NG_011535.1   g.110224A>G|SEQ=[T/C]|GENE=ESR2

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

rs200749741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500574G>A
NC_000009.11   g.127262853G>A
NG_008176.1   g.11847C>T
NM_004959.5   c.386C>T
NM_004959.4   c.386C>T
NP_004950.2   p.Pro129Leu|SEQ=[G/A]|GENE=NR5A1

rs143355429

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500173C>T
NC_000009.11   g.127262452C>T
NG_008176.1   g.12248G>A
NM_004959.5   c.787G>A
NM_004959.4   c.787G>A
NP_004950.2   p.Gly263Ser|SEQ=[C/T]|GENE=NR5A1

rs759071081

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124491167G>A
NC_000009.11   g.127253446G>A
NG_008176.1   g.21254C>T
NM_004959.5   c.1052C>T
NM_004959.4   c.1052C>T
NP_004950.2   p.Ala351Val|SEQ=[G/A]|GENE=NR5A1

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: P01023  
  • Name: Alpha 2 macroglobulin (Alpha 2 M) (C3 and PZP like alpha 2 macroglobulin domain containing protein 5)
  • Length: 1474  
  • Mass: 163,291
• Sequence:

  MGKNKLLHPSLVLLLLVLLPTDASVSGKPQYMVLVPSLLHTETTEKGCVLLSYLNETVTVSASLESVRGNRSLFT
  DLEAENDVLHCVAFAVPKSSSNEEVMFLTVQVKGPTQEFKKRTTVMVKNEDSLVFVQTDKSIYKPGQTVKFRVVS
  MDENFHPLNELIPLVYIQDPKGNRIAQWQSFQLEGGLKQFSFPLSSEPFQGSYKVVVQKKSGGRTEHPFTVEEFV
  LPKFEVQVTVPKIITILEEEMNVSVCGLYTYGKPVPGHVTVSICRKYSDASDCHGEDSQAFCEKFSGQLNSHGCF
  YQQVKTKVFQLKRKEYEMKLHTEAQIQEEGTVVELTGRQSSEITRTITKLSFVKVDSHFRQGIPFFGQVRLVDGK
  GVPIPNKVIFIRGNEANYYSNATTDEHGLVQFSINTTNVMGTSLTVRVNYKDRSPCYGYQWVSEEHEEAHHTAYL
  VFSPSKSFVHLEPMSHELPCGHTQTVQAHYILNGGTLLGLKKLSFYYLIMAKGGIVRTGTHGLLVKQEDMKGHFS
  ISIPVKSDIAPVARLLIYAVLPTGDVIGDSAKYDVENCLANKVDLSFSPSQSLPASHAHLRVTAAPQSVCALRAV
  DQSVLLMKPDAELSASSVYNLLPEKDLTGFPGPLNDQDNEDCINRHNVYINGITYTPVSSTNEKDMYSFLEDMGL
  KAFTNSKIRKPKMCPQLQQYEMHGPEGLRVGFYESDVMGRGHARLVHVEEPHTETVRKYFPETWIWDLVVVNSAG
  VAEVGVTVPDTITEWKAGAFCLSEDAGLGISSTASLRAFQPFFVELTMPYSVIRGEAFTLKATVLNYLPKCIRVS
  VQLEASPAFLAVPVEKEQAPHCICANGRQTVSWAVTPKSLGNVNFTVSAEALESQELCGTEVPSVPEHGRKDTVI
  KPLLVEPEGLEKETTFNSLLCPSGGEVSEELSLKLPPNVVEESARASVSVLGDILGSAMQNTQNLLQMPYGCGEQ
  NMVLFAPNIYVLDYLNETQQLTPEIKSKAIGYLNTGYQRQLNYKHYDGSYSTFGERYGRNQGNTWLTAFVLKTFA
  QARAYIFIDEAHITQALIWLSQRQKDNGCFRSSGSLLNNAIKGGVEDEVTLSAYITIALLEIPLTVTHPVVRNAL
  FCLESAWKTAQEGDHGSHVYTKALLAYAFALAGNQDKRKEVLKSLNEEAVKKDNSVHWERPQKPKAPVGHFYEPQ
  APSAEVEMTSYVLLAYLTAQPAPTSEDLTSATNIVKWITKQQNAQGGFSSTQDTVVALHALSKYGAATFTRTGKA
  AQVTIQSSGTFSSKFQVDNNNRLLLQQVSLPELPGEYSMKVTGEGCVYLQTSLKYNILPEKEEFPFALGVQTLPQ
  TCDEPKAHTSFQISLSVSYTGSRSASNMAIVDVKMVSGFIPLKPTVKMLERSNHVSRTEVSSNHVLIYLDKVSNQ
  TLSLFFTVLQDVPVRDLKPAIVKVYDYYETDEFAIAEYNAPCSKDLGNA

• Structural information:
  • Interpro: IPR009048  IPR036595  IPR011626  IPR002890  IPR011625   IPR013783  IPR014756  IPR001599  IPR019742  IPR019565  IPR008930  IPR010916  
  • Prosite: PS00477
  • PDB: 1BV8 2P9R 4ACQ
  • PDBsum: 1BV8 2P9R 4ACQ
  • DIP: 1118
  • STRING: ENSP00000323929
• Other Databases: GeneCards:  A2M  Malacards:  A2M

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001869	negative regulation of complement activation, lectin pathway	IDA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005102	receptor binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0019838	growth factor binding	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019959	interleukin-8 binding	IPI	molecular function
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043120	tumor necrosis factor binding	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048863	stem cell differentiation	IEA	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0001869	negative regulation of complement activation, lectin pathway	IDA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004866	endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005102	receptor binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0019838	growth factor binding	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019959	interleukin-8 binding	IPI	molecular function
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043120	tumor necrosis factor binding	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048863	stem cell differentiation	IEA	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component
GO:0001869	negative regulation of complement activation, lectin pathway	IDA	biological process
GO:0002020	protease binding	IPI	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005102	receptor binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0019838	growth factor binding	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019959	interleukin-8 binding	IPI	molecular function
GO:0019966	interleukin-1 binding	IDA	molecular function
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043120	tumor necrosis factor binding	IDA	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0072562	blood microparticle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Cerebral amyloid angiopathy (CAA)	GAD: 12394648
Myocardial Infarction	GAD: 12394648
Cardiovascular disease	GAD: 12394648
Macular degeneration	GAD: 16384981
Arthritis	GAD: 11981324
Arthritis	GAD: 11036822
Rheumatoid arthritis	GAD: 11036822
Multiple sclerosis	GAD: 11498265
Diabetes	GAD: 11793025
Amyloidosis	GAD: 18382889
Argyrophilic grain disease	GAD: 12175343
Parkinson disease	GAD: 12123860
Alzheimer's disease	OMIM: 12452480
Psychological disorders	GAD: 11058789
Endometriosis	INFBASE: 2454848
Female infertility	INFBASE: 2454848
Germ cell development	MIK: 8981132
Progressive motility	MIK: 8981132
Maturation arrest	MIK: 8981132
Alpha-2-macroglobulin deficiency	OMIM: 103950
Chronic renal failure	GAD: 21085059
Germ cell development	MIK: 8981132
Maturation of spermatozoa	MIK: 8981132
Progressive motility	MIK: 8981132

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
8981132	Germ cell development, maturation of spermatozoa, progressive motility			80 (69 semen samples of various quality, 11 post-vasectomy samples)	Male infertility	IGF-I HGH alpha 2-M